Donati Francesco Luciano, D'Agostino Armando, Ferrarelli Fabio
Department of Health Sciences, University of Milan, Milan, Italy.
Department of Mental Health, San Paolo Hospital, Milan, Italy.
Biomark Neuropsychiatry. 2020 Dec;3. doi: 10.1016/j.bionps.2020.100017. Epub 2020 May 28.
Schizophrenia (SCZ) is a severe psychotic disorder that affects up to 1% of the US population and it is associated with progressive impairment in social functioning and cognition. Nonetheless, despite its high burden, the pathophysiology of SCZ, including the genetic and biological mechanisms underlying the development and manifestation of the disorder, remains largely elusive. Endophenotypes are subtypes of biological markers that are more closely related to the genetic vulnerability for a disorder (e.g., SCZ). Recently, research on endophenotypes has identified several parameters that may prove useful in shedding light over the underlying neurobiology of SCZ. In this article, we provide an overview of the most established SCZ endophenotypes in the domains of neurocognition (attention deficits, working and verbal declarative memory dysfunctions) and neurophysiology (pre-pulse inhibition, anti-saccade impairment, event-related potential deficits) along with some novel, sleep-based measures (reduced sleep spindles and sleep slow waves). We also discuss recent conceptual advances in the field that may lead to novel, personalized treatment interventions for patients affected by this devastating mental illness.
精神分裂症(SCZ)是一种严重的精神障碍,影响着多达1%的美国人口,并且与社会功能和认知的渐进性损害有关。尽管如此,尽管其负担沉重,但SCZ的病理生理学,包括该疾病发生和表现背后的遗传和生物学机制,在很大程度上仍然难以捉摸。内表型是与一种疾病(如SCZ)的遗传易感性更密切相关的生物标志物亚型。最近,关于内表型的研究已经确定了几个参数,这些参数可能有助于阐明SCZ潜在的神经生物学机制。在本文中,我们概述了神经认知领域(注意力缺陷、工作记忆和言语陈述性记忆功能障碍)和神经生理学领域(前脉冲抑制、反扫视障碍、事件相关电位缺陷)中最成熟的SCZ内表型,以及一些基于睡眠的新测量方法(睡眠纺锤波减少和睡眠慢波)。我们还讨论了该领域最近的概念进展,这些进展可能会为受这种毁灭性精神疾病影响的患者带来新的个性化治疗干预措施。